Variant report

Variant	rs12786089
Chromosome Location	chr11:72385095-72385096
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:72384794-72385240	GM12891	blood:	n/a	n/a
2	REST	chr11:72384359-72385347	HL-60	blood:	n/a	chr11:72385099-72385107 chr11:72385299-72385312
3	REST	chr11:72384967-72385097	GM12878	blood:	n/a	n/a
4	ZNF263	chr11:72384856-72385925	HEK293-T-REx	kidney:	n/a	chr11:72385036-72385045 chr11:72385506-72385515 chr11:72385513-72385522 chr11:72385500-72385521 chr11:72385466-72385475
5	REST	chr11:72384410-72385375	H1-hESC	embryonic stem cell:	n/a	chr11:72385099-72385107 chr11:72385299-72385312
6	REST	chr11:72385052-72385220	A549	lung:	n/a	chr11:72385099-72385107
7	POLR2A	chr11:72383681-72388671	HepG2	liver:	n/a	n/a
8	REST	chr11:72384506-72385108	MCF-7	breast:	n/a	chr11:72385099-72385107
9	REST	chr11:72384493-72385871	H1-neurons	neurons:	n/a	chr11:72385099-72385107 chr11:72385462-72385475 chr11:72385299-72385312
10	POLR2A	chr11:72385065-72385478	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr11:72384822-72385200	Hela-S3	cervix:	n/a	n/a
12	REST	chr11:72384560-72385307	K562	blood:	n/a	chr11:72385099-72385107
13	REST	chr11:72384298-72385137	PFSK-1	brain:	n/a	chr11:72385099-72385107
14	POLR2A	chr11:72384948-72385510	GM12878	blood:	n/a	n/a
15	MAX	chr11:72384618-72385361	H1-hESC	embryonic stem cell:	n/a	chr11:72385071-72385081
16	POLR2A	chr11:72385006-72385396	GM12891	blood:	n/a	n/a
17	USF2	chr11:72385078-72385122	H1-hESC	embryonic stem cell:	n/a	n/a
18	REST	chr11:72384265-72385646	PFSK-1	brain:	n/a	chr11:72385099-72385107 chr11:72385462-72385475 chr11:72385299-72385312
19	REST	chr11:72384394-72385226	A549	lung:	n/a	chr11:72385099-72385107
20	SIN3A	chr11:72384623-72385529	H1-hESC	embryonic stem cell:	n/a	chr11:72385072-72385081
21	REST	chr11:72384384-72385694	H1-hESC	embryonic stem cell:	n/a	chr11:72385099-72385107 chr11:72385462-72385475 chr11:72385299-72385312
22	REST	chr11:72384501-72385139	GM12878	blood:	n/a	chr11:72385099-72385107
23	POLR2A	chr11:72384904-72385099	MCF10A-Er-Src	breast:	n/a	n/a
24	MXI1	chr11:72384678-72385240	H1-hESC	embryonic stem cell:	n/a	chr11:72385072-72385081
25	POLR2A	chr11:72383180-72385482	MCF10A-Er-Src	breast:	n/a	n/a
26	MXI1	chr11:72383907-72385878	SK-N-SH	brain:	n/a	chr11:72385072-72385081

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:72385075-72385125	Hela-S3	cervix:	n/a
2	chr11:72385075-72385125	PFSK-1	brain:	n/a
3	chr11:72385075-72385125	AG10803	skin:	n/a
4	chr11:72385075-72385125	HNPCEpiC	eye:	n/a
5	chr11:72385075-72385125	HEEpiC	esophagus:	n/a
6	chr11:72385075-72385125	HUVEC	blood vessel:	n/a
7	chr11:72385075-72385125	HCF	heart:	n/a
8	chr11:72385075-72385125	K562	blood:	n/a
9	chr11:72385075-72385125	HCT-116	colon:	n/a
10	chr11:72385075-72385125	SK-N-SH_RA	brain:	n/a
11	chr11:72385075-72385125	MCF-7	breast:	n/a
12	chr11:72385075-72385125	RPTEC	kidney:	n/a
13	chr11:72385075-72385125	NB4	blood:	n/a
14	chr11:72385075-72385125	PANC-1	pancreas:	n/a
15	chr11:72385075-72385125	NT2-D1	testis:	n/a
16	chr11:72385075-72385125	PrEC	prostate:	n/a
17	chr11:72385075-72385125	GM19239	blood:	n/a
18	chr11:72385075-72385125	AG04449	skin:	fetal
19	chr11:72385075-72385125	SKMC	muscle:	n/a
20	chr11:72385075-72385125	AoSMC	blood vessel:	n/a
21	chr11:72385075-72385125	SAEC	small airway:	n/a
22	chr11:72385075-72385125	AG04450	lung:	fetal
23	chr11:72385075-72385125	HRPEpiC	eye:	n/a
24	chr11:72385075-72385125	BJ	skin:	n/a
25	chr11:72385075-72385125	AG09319	gingival:	n/a
26	chr11:72385075-72385125	Caco-2	colon:	n/a
27	chr11:72385075-72385125	GM12878	blood:	n/a
28	chr11:72385075-72385125	HAEpiC	amniotic membrane:	n/a
29	chr11:72385075-72385125	HRE	kidney:	n/a
30	chr11:72385075-72385125	HMEC	breast:	n/a
31	chr11:72385075-72385125	ECC-1	luminal epithelium:	n/a
32	chr11:72385075-72385125	GM06990	blood:	n/a
33	chr11:72385075-72385125	ovcar-3	ovarian:	n/a
34	chr11:72385075-72385125	SK-N-MC	brain:	n/a
35	chr11:72385075-72385125	HCPEpiC	choroid plexus:	n/a
36	chr11:72385075-72385125	GM12891	blood:	n/a
37	chr11:72385075-72385125	HCM	heart:	n/a
38	chr11:72385075-72385125	SK-N-SH	brain:	n/a
39	chr11:72385075-72385125	H1-hESC	embryonic stem cell:	embryo
40	chr11:72385075-72385125	U87	brain:	n/a
41	chr11:72385075-72385125	GM12892	blood:	n/a
42	chr11:72385075-72385125	HL-60	blood:	n/a
43	chr11:72385075-72385125	T-47D	breast:	n/a
44	chr11:72385075-72385125	BE2_C	brain:	n/a
45	chr11:72385075-72385125	ProgFib	skin:	n/a
46	chr11:72385075-72385125	NH-A	brain:	n/a
47	chr11:72385075-72385125	NHBE	bronchial:	n/a
48	chr11:72385075-72385125	HepG2	liver:	n/a
49	chr11:72385075-72385125	HRCEpiC	kidney:	n/a
50	chr11:72385075-72385125	HPAEpiC	pulmonary alveolar:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:72352379..72355272-chr11:72384070..72386668,2	K562	blood:

Variant related genes	Relation type
PDE2A	TF binding region
PDE2A	CpG island
ENSG00000255808	Chromatin interaction
ENSG00000186642	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12792829	1.00[EUR][1000 genomes]
rs12796885	0.89[EUR][1000 genomes]
rs34032958	1.00[EUR][1000 genomes]
rs34273765	1.00[AFR][1000 genomes]
rs34774339	1.00[AFR][1000 genomes]
rs35374828	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35730889	1.00[EUR][1000 genomes]
rs36094095	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1806140	chr11:72268466-72546175	Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	77 gene(s)	inside rSNPs	diseases
2	esv1832864	chr11:72270965-72389125	Bivalent Enhancer Bivalent/Poised TSS Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
3	nsv832207	chr11:72272750-72469122	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	31 gene(s)	inside rSNPs	diseases
4	nsv523601	chr11:72281884-72430935	Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
5	nsv825991	chr11:72320642-72385221	Genic enhancers Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
6	esv3394774	chr11:72320884-72694077	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:72380600-72395400	Weak transcription	Right Atrium	heart
2	chr11:72383400-72385400	Bivalent/Poised TSS	Brain Anterior Caudate	brain
3	chr11:72383600-72385800	Bivalent/Poised TSS	Brain Angular Gyrus	brain
4	chr11:72383800-72385800	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
5	chr11:72384000-72385200	Flanking Active TSS	Fetal Brain Male	brain
6	chr11:72384000-72385400	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
7	chr11:72384000-72385600	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
8	chr11:72384000-72385800	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
9	chr11:72384200-72385400	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr11:72384200-72385800	Active TSS	Fetal Brain Female	brain
11	chr11:72384800-72385200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr11:72384800-72385200	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
13	chr11:72384800-72385400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
14	chr11:72384800-72385400	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
15	chr11:72384800-72385400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
16	chr11:72384800-72385400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
17	chr11:72384800-72385400	Enhancers	Gastric	stomach
18	chr11:72384800-72385600	Active TSS	H9 Cell Line	embryonic stem cell
19	chr11:72384800-72385600	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr11:72384800-72385600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
21	chr11:72384800-72385600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
22	chr11:72384800-72385600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
23	chr11:72384800-72385600	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
24	chr11:72384800-72385800	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr11:72385000-72385200	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr11:72385000-72385200	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
27	chr11:72385000-72385200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr11:72385000-72385200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr11:72385000-72385200	Bivalent Enhancer	Brain Substantia Nigra	brain
30	chr11:72385000-72385200	Bivalent Enhancer	Fetal Stomach	stomach
31	chr11:72385000-72385400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
32	chr11:72385000-72385400	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
33	chr11:72385000-72385400	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
34	chr11:72385000-72385600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr11:72385000-72385600	Bivalent/Poised TSS	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr11:72385000-72385600	Bivalent/Poised TSS	Brain Germinal Matrix	brain
37	chr11:72385000-72385600	Bivalent Enhancer	Placenta	Placenta
38	chr11:72385000-72386200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links